view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-C_chr6_31263749_31277092 | 31270037 | A | AGGACAGC others(11): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp1 HG02055.hp1 HG02257.hp2 others(7): Show |
a0017a0032 | a0017c0017a0032c0033 | a0017c0017t0010a0032c0033t0010 | a0017c0017t0010g0017 a0032c0033t0010g0046 |
10 | 448 | 0.0223 | 18 | c.943 others(25): Show |
p.Gly others(31): Show |
HLA-C | ENSG00000204525.18 | transcript | ENST00000376228.10 | protein_coding | 5/8 | 964/1542 | 943/1101 | 315/366 | chr6 | TogoVar | |||
HNRNPA0_chr5_137740651_137759363 | 137753256 | C | CGCT | conservative_inframe_insertion | MODERATE | HG02109.hp1 HG03239.hp1 HG03710.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 366 | 0.0082 | 3 | c.808 others(10): Show |
p.Ser others(6): Show |
HNRNPA0 | ENSG00000177733.7 | transcript | ENST00000314940.7 | protein_coding | 1/1 | 1107/8713 | 810/918 | 270/305 | chr5 | TogoVar | |||
HNRNPLL_chr2_38556969_38607928 | 38602455 | G | GGCC | conservative_inframe_insertion | MODERATE | NA18906.hp1 NA18945.hp2 NA18950.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0013 | a0002c0002t0006g0249 a0002c0002t0006g0250 a0002c0002t0006g0251 others(7): Show |
11 | 336 | 0.0327 | 3 | c.169 others(10): Show |
p.Gly others(5): Show |
HNRNPLL | ENSG00000143889.16 | transcript | ENST00000449105.8 | protein_coding | 1/13 | 473/4144 | 171/1629 | 57/542 | chr2 | TogoVar | |||
HOXB1_chr17_48523526_48536011 | 48530822 | G | GGGGCGCT others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(44): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(5): Show | a0002c0002t0001g0017 a0002c0002t0002g0002 a0002c0002t0002g0018 others(6): Show |
47 | 424 | 0.1108 | 9 | c.74_ others(14): Show |
p.His others(11): Show |
HOXB1 | ENSG00000120094.9 | transcript | ENST00000239174.7 | protein_coding | 1/2 | 189/2034 | 82/906 | 28/301 | chr17 | TogoVar | |||
HOXD8_chr2_176124705_176137695 | 176130574 | G | GCGCACC | conservative_inframe_insertion | MODERATE | HG01168.hp2 HG01169.hp1 HG02735.hp1 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0007 | a0002c0004t0001g0001 a0002c0004t0007g0001 |
9 | 398 | 0.0226 | 6 | c.217 others(13): Show |
p.His others(11): Show |
HOXD8 | ENSG00000175879.9 | transcript | ENST00000313173.6 | protein_coding | 1/2 | 885/2618 | 223/873 | 75/290 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
HRAS_chr11_527242_540576 | 533821 | G | GGAAGCCC others(8): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0020 | 1 | 396 | 0.0025 | 15 | c.220 others(22): Show |
p.Phe others(26): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3/6 | 448/1070 | 234/570 | 78/189 | chr11 | TogoVar | |||
HRCT1_chr9_35901202_35912136 | 35906589 | A | ACCACCAC others(32): Show |
conservative_inframe_insertion | MODERATE | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 387 | 0.0026 | 39 | c.327 others(46): Show |
p.His others(52): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 414/935 | 328/348 | 110/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906589 | A | ACCACCAC others(44): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp1 NA18960.hp1 NA18974.hp2 others(5): Show |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0000 | 8 | 394 | 0.0203 | 51 | c.339 others(58): Show |
p.His others(64): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 426/935 | 340/348 | 114/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906589 | A | ACCACCAC others(95): Show |
conservative_inframe_insertion | MODERATE | NA19004.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0000 | 1 | 387 | 0.0026 | 102 | c.339 others(109): Show |
p.His others(115): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 426/935 | 340/348 | 114/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(149): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0039 | a0039c0035 | a0039c0035t0001 | a0039c0035t0001g0047 | 1 | 381 | 0.0026 | 156 | c.963 others(163): Show |
p.His others(169): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(146): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp1 | a0035 | a0035c0051 | a0035c0051t0001 | a0035c0051t0001g0076 | 1 | 381 | 0.0026 | 153 | c.963 others(160): Show |
p.His others(166): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(149): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 | a0032 | a0032c0055 | a0032c0055t0001 | a0032c0055t0001g0080 | 1 | 381 | 0.0026 | 156 | c.963 others(163): Show |
p.His others(169): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(146): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0010a0019 | a0010c0012a0019c0027 | a0010c0012t0001a0019c0027t0001 | a0010c0012t0001g0018 a0019c0027t0001g0037 |
6 | 386 | 0.0155 | 153 | c.963 others(160): Show |
p.His others(166): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(146): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp1 HG02451.hp1 HG02559.hp2 others(11): Show |
a0009a0010a0017others(2): Show | a0009c0009a0010c0056a0017c0052others(3): Show | a0009c0009t0001a0010c0056t0001a0017c0052t0001others(3): Show | a0009c0009t0001g0009 a0010c0056t0001g0081 a0017c0052t0001g0077 others(3): Show |
14 | 394 | 0.0355 | 153 | c.963 others(160): Show |
p.His others(166): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154274 | G | GGTGCCTG others(146): Show |
conservative_inframe_insertion | MODERATE | HG02965.hp1 | a0036 | a0036c0029 | a0036c0029t0001 | a0036c0029t0001g0043 | 1 | 381 | 0.0026 | 153 | c.963 others(160): Show |
p.His others(166): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1122/2357 | 963/2100 | 321/699 | chr19 | TogoVar | |||
HRC_chr19_49146198_49160396 | 49154453 | A | ACAT | conservative_inframe_insertion | MODERATE | HG00673.hp2 HG01109.hp2 HG01167.hp1 others(21): Show |
a0005a0006a0029 | a0005c0005a0006c0006a0006c0048others(1): Show | a0005c0005t0001a0006c0006t0001a0006c0048t0001others(1): Show | a0005c0005t0001g0011 a0005c0005t0001g0019 a0005c0005t0001g0025 others(4): Show |
24 | 247 | 0.0972 | 3 | c.782 others(10): Show |
p.Asp others(6): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 943/2357 | 784/2100 | 262/699 | chr19 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp2 | a0001 | a0001c0078 | a0001c0078t0001 | a0001c0078t0001g0082 | 1 | 410 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp2 | a0001 | a0001c0079 | a0001c0079t0001 | a0001c0079t0001g0083 | 1 | 410 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | HG03209.hp2 | a0001 | a0001c0077 | a0001c0077t0001 | a0001c0077t0001g0081 | 1 | 410 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213755 | G | GAACCTGA others(13397): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp1 | a0001 | a0001c0114 | a0001c0114t0001 | a0001c0114t0001g0122 | 1 | 413 | 0.0024 | 13404 | c.787 others(13413): Show |
p.Gly others(13419): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7949/9629 | 7873/8553 | 2625/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213755 | G | GAACCTGA others(13397): Show |
conservative_inframe_insertion | MODERATE | HG00642.hp1 HG01069.hp2 HG01943.hp2 |
a0001 | a0001c0035a0001c0113 | a0001c0035t0001a0001c0113t0001 | a0001c0035t0001g0041 a0001c0113t0001g0121 |
3 | 415 | 0.0072 | 13404 | c.787 others(13413): Show |
p.Gly others(13419): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7949/9629 | 7873/8553 | 2625/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213941 | C | CTGGAAGA others(10571): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp2 | a0001 | a0001c0092 | a0001c0092t0006 | a0001c0092t0006g0096 | 1 | 387 | 0.0026 | 10578 | c.768 others(10587): Show |
p.Ser others(10593): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7763/9629 | 7687/8553 | 2563/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214014 | C | TGTGGCCT others(1403): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 NA18952.hp2 |
a0001 | a0001c0043 | a0001c0043t0002 | a0001c0043t0002g0048 | 2 | 252 | 0.0079 | 1410 | c.761 others(1419): Show |
p.Gly others(1425): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7691/9629 | 7615/8553 | 2539/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214014 | C | TGTGGCCT others(1403): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp1 HG03130.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0027a0001c0157 | a0001c0027t0002a0001c0157t0002 | a0001c0027t0002g0029 a0001c0157t0002g0157 |
4 | 254 | 0.0157 | 1410 | c.761 others(1419): Show |
p.Gly others(1425): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7691/9629 | 7615/8553 | 2539/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214014 | C | TGTGGCCT others(1403): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp2 NA18993.hp2 |
a0001a0002 | a0001c0173a0002c0056 | a0001c0173t0002a0002c0056t0002 | a0001c0173t0002g0186 a0002c0056t0002g0168 |
2 | 252 | 0.0079 | 1410 | c.761 others(1419): Show |
p.Gly others(1425): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7691/9629 | 7615/8553 | 2539/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214014 | C | TGTGGCCT others(1403): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(64): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0045a0001c0156others(12): Show | a0001c0001t0002a0001c0045t0002a0001c0156t0002others(12): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(14): Show |
67 | 317 | 0.2114 | 1410 | c.761 others(1419): Show |
p.Gly others(1425): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7691/9629 | 7615/8553 | 2539/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214014 | C | TGTGGCCT others(1403): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 HG03710.hp1 HG04184.hp2 |
a0001 | a0001c0042a0001c0165 | a0001c0042t0002a0001c0165t0002 | a0001c0042t0002g0047 a0001c0165t0002g0179 |
3 | 253 | 0.0119 | 1410 | c.761 others(1419): Show |
p.Gly others(1425): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7691/9629 | 7615/8553 | 2539/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214059 | C | CAGAAGAC others(701): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 | a0001 | a0001c0107 | a0001c0107t0001 | a0001c0107t0001g0160 | 1 | 416 | 0.0024 | 708 | c.756 others(717): Show |
p.Ser others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7645/9629 | 7569/8553 | 2523/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152214597 | G | ATGGTGAC others(2813): Show |
conservative_inframe_insertion | MODERATE | NA19084.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0014 | 1 | 255 | 0.0039 | 2820 | c.703 others(2829): Show |
p.His others(2835): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7108/9629 | 7032/8553 | 2344/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(701): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(38): Show |
a0001a0003 | a0001c0003a0001c0007a0001c0025others(7): Show | a0001c0003t0001a0001c0007t0001a0001c0025t0001others(7): Show | a0001c0003t0001g0003 a0001c0007t0001g0005 a0001c0025t0001g0019 others(7): Show |
41 | 411 | 0.0998 | 708 | c.615 others(717): Show |
p.Ser others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(7037): Show |
conservative_inframe_insertion | MODERATE | HG01361.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0005 | 1 | 371 | 0.0027 | 7044 | c.615 others(7053): Show |
p.Ser others(7059): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(701): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 | a0001 | a0001c0107 | a0001c0107t0001 | a0001c0107t0001g0160 | 1 | 371 | 0.0027 | 708 | c.615 others(717): Show |
p.Ser others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(12695): Show |
conservative_inframe_insertion | MODERATE | NA18973.hp2 NA19070.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0010 | 2 | 372 | 0.0054 | 12702 | c.615 others(12711): Show |
p.Ser others(12717): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(1406): Show |
conservative_inframe_insertion | MODERATE | HG01358.hp2 | a0001 | a0001c0096 | a0001c0096t0001 | a0001c0096t0001g0100 | 1 | 371 | 0.0027 | 1413 | c.615 others(1422): Show |
p.Ser others(1428): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215633 | T | TGTCCTGA others(701): Show |
conservative_inframe_insertion | MODERATE | NA18951.hp2 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0071 | 1 | 370 | 0.0027 | 708 | c.599 others(717): Show |
p.Gly others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6071/9629 | 5995/8553 | 1999/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215700 | G | GGCTGGAA others(7049): Show |
conservative_inframe_insertion | MODERATE | HG03834.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 | 1 | 293 | 0.0034 | 7056 | c.592 others(7065): Show |
p.Ser others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6004/9629 | 5928/8553 | 1976/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215700 | G | GGCTGGAA others(701): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp2 HG00438.hp1 HG00621.hp2 others(57): Show |
a0001a0009 | a0001c0010a0001c0013a0001c0020others(40): Show | a0001c0010t0001a0001c0013t0001a0001c0020t0001others(40): Show | a0001c0010t0001g0007 a0001c0013t0001g0011 a0001c0020t0001g0020 others(40): Show |
60 | 352 | 0.1705 | 708 | c.592 others(717): Show |
p.Ser others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6004/9629 | 5928/8553 | 1976/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215700 | G | GGCTGGAA others(6347): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp2 | a0001 | a0001c0092 | a0001c0092t0006 | a0001c0092t0006g0096 | 1 | 293 | 0.0034 | 6354 | c.592 others(6363): Show |
p.Ser others(6369): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6004/9629 | 5928/8553 | 1976/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215700 | G | GGCTGGAA others(701): Show |
conservative_inframe_insertion | MODERATE | HG02155.hp2 | a0001 | a0001c0094 | a0001c0094t0011 | a0001c0094t0011g0098 | 1 | 293 | 0.0034 | 708 | c.592 others(717): Show |
p.Ser others(723): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6004/9629 | 5928/8553 | 1976/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG03831.hp2 | a0010 | a0010c0047 | a0010c0047t0001 | a0010c0047t0001g0054 | 1 | 158 | 0.0063 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG01123.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0036 | 1 | 158 | 0.0063 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(10577): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0016 | 2 | 159 | 0.0126 | 10584 | c.589 others(10593): Show |
p.Tyr others(10599): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(8459): Show |
conservative_inframe_insertion | MODERATE | HG02683.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 | 1 | 158 | 0.0063 | 8466 | c.589 others(8475): Show |
p.Tyr others(8481): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG01517.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 | 1 | 158 | 0.0063 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp2 HG01515.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0006a0001c0031 | a0001c0006t0001a0001c0031t0001 | a0001c0006t0001g0006 a0001c0006t0001g0030 a0001c0031t0001g0036 |
8 | 165 | 0.0485 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(10577): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01496.hp2 HG02738.hp2 |
a0001 | a0001c0005a0001c0104 | a0001c0005t0006a0001c0104t0006 | a0001c0005t0006g0016 a0001c0104t0006g0108 |
3 | 160 | 0.0188 | 10584 | c.589 others(10593): Show |
p.Tyr others(10599): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(10577): Show |
conservative_inframe_insertion | MODERATE | HG01975.hp1 | a0001 | a0001c0105 | a0001c0105t0001 | a0001c0105t0001g0109 | 1 | 158 | 0.0063 | 10584 | c.589 others(10593): Show |
p.Tyr others(10599): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(14105): Show |
conservative_inframe_insertion | MODERATE | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0039 | 2 | 159 | 0.0126 | 14112 | c.589 others(14121): Show |
p.Tyr others(14127): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG02572.hp1 HG02630.hp1 HG03486.hp2 |
a0001 | a0001c0005a0001c0109 | a0001c0005t0001a0001c0109t0001 | a0001c0005t0001g0010 a0001c0109t0001g0112 |
3 | 160 | 0.0188 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152215736 | C | CGTAGCTG others(7049): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0010 | 1 | 158 | 0.0063 | 7056 | c.589 others(7065): Show |
p.Tyr others(7071): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5968/9629 | 5892/8553 | 1964/2850 | chr1 | TogoVar |